Two Y chromosomes with duplication of the distal long arm including the entire AZFc region

Hui Kuo Hsu, Mei Tsz Su, Ming Chen, Pauline Yen, Pao Lin Kuo

研究成果: Article

3 引文 斯高帕斯(Scopus)

摘要

Chromosome anomalies/rearrangements of the Y chromosome seldom threaten life and are quite common. The 4.5. Mb AZFc region on Yq11.2 is one of the most polymorphic regions in the human genome. AZFc partial deletion is almost inevitably associated with impaired fertility while the functional significance of AZFc partial duplications remains controversial. In this report, a large Y chromosome with one centromere and two heterochromatic blocks was identified incidentally in two men. The first case was ascertained through surveillance for recurrent miscarriage. The second case was ascertained through amniocytes of a fetus and his father. FISH and array-based comparative genomic hybridization showed duplications of the entire AZFc region as well as Yq euchromatic region. The duplications in Case 1 and Case 2 spanned 4.8. Mb and 6.2. Mb, respectively, of the Yq euchromatic region. These two cases suggest that complete AZFc duplication could be completely benign. It awaits further investigation whether this is a bona fide chromosomal polymorphism.

原文English
頁(從 - 到)444-448
頁數5
期刊Gene
536
發行號2
DOIs
出版狀態Published - 2014 二月 25

All Science Journal Classification (ASJC) codes

  • Genetics

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